PDE6G

Protein identityUniProt · HPA

UniProt accession

P18545

Gene

PDE6G

Ensembl

ENSG00000185527

Chromosome

17

Canonical length

87 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

Canonical amino-acid sequenceUniProt

87 residues, UniProt reviewed canonical sequence.

>P18545|PDE6G
     1  MNLEPPKAEF RSATRVAGGP VTPRKGPPKF KQRQTRQFKS KPPKKGVQGF GDDIPGMEGL
    61  GTDITVICPW EAFNHLELHE LAQYGII

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDE6G can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.62

Highest tissue expression

1,905 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDE6G.

Disease | AllUniProt

Conditions PDE6G is implicated in, by any mechanism.

• Retinitis pigmentosa 57 (RP57) MIM:613582

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 114 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 57
• Retinitis pigmentosa
• Retinal dystrophy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.66

gnomAD pLI

0.01

gnomAD missense Z

-0.03

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of epidermal growth factor receptor signaling pathway
• positive regulation of G protein-coupled receptor signaling pathway
• positive regulation of MAPK cascade
• visual perception

Molecular functions

• 3',5'-cyclic-GMP phosphodiesterase activity
• cGMP binding
• enzyme inhibitor activity
• spectrin binding

Cellular components

• photoreceptor disc membrane
• photoreceptor outer segment membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Retinal cGMP phosphodiesterase, gamma subunit
• Retinal cGMP phosphodiesterase, gamma subunit superfamily
• Retinal cGMP phosphodiesterase, gamma subunit

KeywordsUniProt

• Acetylation
• cGMP
• Hydrolase
• Retinitis pigmentosa
• Sensory transduction
• Vision

InteractionsUniProt · HPA

Protein binding partners of PDE6G in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GNAT1
• RGS9
• FNBP1
• TRIP10